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The Egyptian Heart Journal : (EHJ) :... Apr 2024Kallmann-Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations...
BACKGROUND
Kallmann-Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known. Through this case, we will characterize the cardiac involvement of this disease in the light of what is already described in the literature.
CASE PRESENTATION
We report the case of a young patient who presented with a picture of cardiac decompensation revealing restrictive heart disease. In her exploration, she was found to have primary amenorrhea, leading to the diagnosis of Kallmann syndrome. Medical treatment was optimized for the management of her cardiac decompensation as well as hormonal replacement treatment for her delayed puberty and growth.
CONCLUSIONS
Cardiac manifestations in Kallmann-Morsier syndrome are few reported in the literature, and restrictive heart disease is uncommon with no cases report till now. This association suggests a possible common genetic origin that should be explored in the future.
PubMed: 38635120
DOI: 10.1186/s43044-024-00479-1 -
Journal of Clinical Nursing Apr 2024To examine the long-term effects of COVID-19 on surgical nurses.
PURPOSE
To examine the long-term effects of COVID-19 on surgical nurses.
BACKGROUND
Individuals contaminated with COVID-19 may face several metabolic or psychological issues, primarily in the respiratory, cardiovascular, nervous, musculoskeletal and renal systems during the late period. However, the long-term epidemiology is still not clear.
DESIGN
Descriptive cross-sectional study.
METHODS
The study included nurses (n = 509) who had been diagnosed with COVID-19 at least 12 weeks before and worked in surgical departments. We collected the study data via an online survey using the snowball sampling method between December 2021 and May 2022. This study followed the Reporting of Observational Studies in Epidemiology Guideline.
RESULTS
The mean age of the nurses was 31.66 ± 8.74 years. Nurses stated that they were diagnosed with COVID-19 approximately 36 weeks before participating in this study. We found that the nurses mostly experienced palpitation (83.5%), headache (73.5%), dyspnea (64.1%), anosmia (57.6%), arthralgia (55.7%) and burnout (58.4%) during the late period after COVID-19.
CONCLUSION
The long-term effects of COVID-19 were related to multiple organ dysfunctions.
NO PATIENT OR PUBLIC CONTRIBUTION
Since the study was conducted with healthy individuals who had previously experienced COVID-19, there is no patient contribution.
RELEVANCE TO CLINICAL PRACTICE
This study focuses on the long-term effects of COVID-19 on nurses. The results support the long-term effects of COVID-19 and are thought to contribute to the literature.
PubMed: 38622927
DOI: 10.1111/jocn.17015 -
BMC Medicine Apr 2024ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown...
ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients. Conditional knockout of Ankrd11 in murine embryonic neural stem cells leads to aberrant postnatal olfactory bulb development and reduced size due to reduction of the olfactory bulb granule cell layer. We further show that the rostral migratory stream has incomplete migration of neuroblasts, reduced cell proliferation as well as aberrant differentiation of neurons. This leads to reduced neuroblasts and neurons in the olfactory bulb granule cell layer. In vitro, Ankrd11-deficient neural stem cells from the postnatal subventricular zone display reduced migration, proliferation, and neurogenesis. Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove hypo-dysgenesis/agenesis. Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration. Moreover, our study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans.
Topics: Humans; Animals; Mice; Abnormalities, Multiple; Intellectual Disability; Tooth Abnormalities; Bone Diseases, Developmental; Facies; Olfactory Bulb; Disease Models, Animal
PubMed: 38616269
DOI: 10.1186/s12916-024-03363-6 -
Healthcare (Basel, Switzerland) Mar 2024Taste and smell disorders are common symptoms of SARS-CoV-2 acute infection. In post-COVID-19 condition, symptoms can persist leading to disruption in patients' lives,...
Taste and smell disorders are common symptoms of SARS-CoV-2 acute infection. In post-COVID-19 condition, symptoms can persist leading to disruption in patients' lives, to changes in their coping skills, and to the need to develop strategies for everyday life. This study aimed to describe the perspective of a group of patients with Long-COVID-19, a condition where loss of taste and/or smell was the most predominant symptom. A qualitative descriptive study was conducted. Participants who had suffered SARS-CoV-2 infection and had Long-COVID-19 loss of taste and/or smell were recruited. Purposive sampling was applied, and participants were recruited until data redundancy was reached. In-depth interviews were used for data collection and thematic analysis was applied. Twelve COVID-19 survivors (75% women) were recruited. The mean age of the participants was 55 years, and the mean duration of post-COVID-19 symptoms was 25 months. Three themes were identified: (a) Living with taste and smell disorders, describing the disorders they experience on a daily basis, how their life has changed and the accompanying emotions, (b) Changes and challenges resulting from the loss of taste and smell, changes in habits, self-care and risk in certain jobs or daily activities, (c) Coping with taste and smell disorders, describing the daily strategies used and the health care received. In conclusion, Long-COVID-19 taste and/or smell disorders limit daily life and involve changes in habits, meal preparation, and the ability to detect potentially dangerous situations.
PubMed: 38610176
DOI: 10.3390/healthcare12070754 -
Cureus Mar 2024Background Anosmia has been identified as a distinctive symptom of COVID-19, leading to hypotheses about its pathophysiological underpinnings, including the potential...
Background Anosmia has been identified as a distinctive symptom of COVID-19, leading to hypotheses about its pathophysiological underpinnings, including the potential role of paranasal sinus mucosal thickening. Objective To investigate the association between paranasal sinus mucosal thickening and anosmia in COVID-19 patients, providing insights into the complex clinical manifestations of the disease. Methods This retrospective cohort study analyzed CT paranasal sinus from 270 confirmed COVID-19 patients, divided into those with anosmia (n = 23, 8.52%) and those without anosmia (n = 247, 91.48%). Statistical analysis, including independent t-tests, was employed to compare mucosal thickening between the groups. Results The study found an average mucosal thickening of 0.03 in patients with anosmia and 0.02 in those without, with no statistically significant difference between the groups (p = 0.480, which is greater than 0.05). The findings suggest that mucosal thickening in the paranasal sinuses does not serve as a definitive correlate of anosmia among COVID-19 patients. Conclusion The absence of a significant correlation between paranasal sinus mucosal thickening and anosmia in COVID-19 patients indicates that the pathophysiology of anosmia may involve factors beyond anatomical changes, including direct viral effects and systemic inflammatory responses.
PubMed: 38606227
DOI: 10.7759/cureus.56019 -
Media, Culture, and Society May 2023The enduring effects of COVID-19 have called into question many of the assumptions upon which media and cultural studies rest, including a fundamental mode of...
The enduring effects of COVID-19 have called into question many of the assumptions upon which media and cultural studies rest, including a fundamental mode of perception: the sense of smell. In dialog with the field of sensory studies, this paper traces digital smell loss (anosmia) communities from pre-pandemic Facebook groups to mid-pandemic TikTok challenges. This article considers digital smell loss communities on TikTok as imitation publics characterized by repetition. Via replicable TikTok challenges, digital smell-loss communities reckoned with the unmooring effects of a seemingly mild symptom. By exploring how formulaic smell-loss challenges generated support and facilitated community-building, this article demands greater attention to a sense often considered 'disposable'.
PubMed: 38603299
DOI: 10.1177/01634437221146904 -
Chemical Senses Jan 2024The scent of musk plays a unique role in the history of perfumery. Musk odorants comprise 6 diverse chemical classes and perception differences in strength and quality...
The scent of musk plays a unique role in the history of perfumery. Musk odorants comprise 6 diverse chemical classes and perception differences in strength and quality among human panelists have long puzzled the field of olfaction research. Three odorant receptors (OR) had recently been described for musk odorants: OR5AN1, OR1N2, and OR5A2. High functional expression of the difficult-to-express human OR5A2 was achieved by a modification of the C-terminal domain and the link between sensory perception and receptor activation for the trilogy of these receptors and their key genetic variants was investigated: All 3 receptors detect only musky smelling compounds among 440 commercial fragrance compounds. OR5A2 is the key receptor for the classes of polycyclic and linear musks and for most macrocylic lactones. A single P172L substitution reduces the sensitivity of OR5A2 by around 50-fold. In parallel, human panelists homozygous for this mutation have around 40-60-fold higher sensory detection threshold for selective OR5A2 ligands. For macrocyclic lactones, OR5A2 could further be proven as the key OR by a strong correlation between in vitro activation and the sensory detection threshold in vivo. OR5AN1 is the dominant receptor for the perception of macrocyclic ketones such as muscone and some nitromusks, as panelists with a mutant OR5A2 are still equally sensitive to these ligands. Finally, OR1N2 appears to be an additional receptor involved in the perception of the natural (E)-ambrettolide. This study for the first time links OR activation to sensory perception and genetic polymorphisms for this unique class of odorants.
Topics: Humans; Fatty Acids, Monounsaturated; Genotype; Lactones; Odorants; Receptors, Odorant; Smell; Olfactory Perception
PubMed: 38591752
DOI: 10.1093/chemse/bjae015 -
Neurological Sciences : Official... Jun 2024Literature reporting the onset of Creutzfeldt-Jakob disease (CJD) immediately after COVID-19 infection has strengthened a possible causal link between infection and...
BACKGROUND
Literature reporting the onset of Creutzfeldt-Jakob disease (CJD) immediately after COVID-19 infection has strengthened a possible causal link between infection and neurodegeneration. Here, we report a novel case undergoing detailed neuropathological assessment.
CASE REPORT
Two months after he had contracted SARS-CoV-2 infection, a 54-year-old man manifested a subacute onset of ataxia, headache, anosmia, and hallucinations, followed by rapidly progressive cognitive decline. Electroencephalography documented unspecific slowing with periodic polyphasic delta waves. Brain MRI showed hyperintensities of basal ganglia and thalami on DWI/FLAIR. CSF tested positive for the 14-3-3 protein, and prion seeding activity was demonstrated by the real-time quaking-induced conversion assay. The patient died 2 months after the neurologic onset. The neuropathological examination confirmed the diagnosis of CJD and ruled out COVID-19-related encephalitis.
DISCUSSION
To disentangle the link between COVID-19 infection and CJD, neuropathology is essential determining the extent of changes related to both conditions. In our patient, we did not find any specific abnormality related to COVID-19. Our conclusion is in line with the current worldwide epidemiological data that do not show an increase in CJD cases since the beginning of the COVID-19 pandemic.
Topics: Humans; Creutzfeldt-Jakob Syndrome; Male; Middle Aged; COVID-19; Fatal Outcome; Brain; Electroencephalography; SARS-CoV-2; Magnetic Resonance Imaging
PubMed: 38578381
DOI: 10.1007/s10072-024-07486-9 -
PLoS Medicine Apr 2024Acute neurological manifestation is a common complication of acute Coronavirus Disease 2019 (COVID-19) disease. This retrospective cohort study investigated the 3-year...
BACKGROUND
Acute neurological manifestation is a common complication of acute Coronavirus Disease 2019 (COVID-19) disease. This retrospective cohort study investigated the 3-year outcomes of patients with and without significant neurological manifestations during initial COVID-19 hospitalization.
METHODS AND FINDINGS
Patients hospitalized for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection between 03/01/2020 and 4/16/2020 in the Montefiore Health System in the Bronx, an epicenter of the early pandemic, were included. Follow-up data was captured up to 01/23/2023 (3 years post-COVID-19). This cohort consisted of 414 patients with COVID-19 with significant neurological manifestations and 1,199 propensity-matched patients (for age and COVID-19 severity score) with COVID-19 without neurological manifestations. Neurological involvement during the acute phase included acute stroke, new or recrudescent seizures, anatomic brain lesions, presence of altered mentation with evidence for impaired cognition or arousal, and neuro-COVID-19 complex (headache, anosmia, ageusia, chemesthesis, vertigo, presyncope, paresthesias, cranial nerve abnormalities, ataxia, dysautonomia, and skeletal muscle injury with normal orientation and arousal signs). There were no significant group differences in female sex composition (44.93% versus 48.21%, p = 0.249), ICU and IMV status, white, not Hispanic (6.52% versus 7.84%, p = 0.380), and Hispanic (33.57% versus 38.20%, p = 0.093), except black non-Hispanic (42.51% versus 36.03%, p = 0.019). Primary outcomes were mortality, stroke, heart attack, major adverse cardiovascular events (MACE), reinfection, and hospital readmission post-discharge. Secondary outcomes were neuroimaging findings (hemorrhage, active and prior stroke, mass effect, microhemorrhages, white matter changes, microvascular disease (MVD), and volume loss). More patients in the neurological cohort were discharged to acute rehabilitation (10.39% versus 3.34%, p < 0.001) or skilled nursing facilities (35.75% versus 25.35%, p < 0.001) and fewer to home (50.24% versus 66.64%, p < 0.001) than matched controls. Incidence of readmission for any reason (65.70% versus 60.72%, p = 0.036), stroke (6.28% versus 2.34%, p < 0.001), and MACE (20.53% versus 16.51%, p = 0.032) was higher in the neurological cohort post-discharge. Per Kaplan-Meier univariate survival curve analysis, such patients in the neurological cohort were more likely to die post-discharge compared to controls (hazard ratio: 2.346, (95% confidence interval (CI) [1.586, 3.470]; p < 0.001)). Across both cohorts, the major causes of death post-discharge were heart disease (13.79% neurological, 15.38% control), sepsis (8.63%, 17.58%), influenza and pneumonia (13.79%, 9.89%), COVID-19 (10.34%, 7.69%), and acute respiratory distress syndrome (ARDS) (10.34%, 6.59%). Factors associated with mortality after leaving the hospital involved the neurological cohort (odds ratio (OR): 1.802 (95% CI [1.237, 2.608]; p = 0.002)), discharge disposition (OR: 1.508 (95% CI [1.276, 1.775]; p < 0.001)), congestive heart failure (OR: 2.281 (95% CI [1.429, 3.593]; p < 0.001)), higher COVID-19 severity score (OR: 1.177 (95% CI [1.062, 1.304]; p = 0.002)), and older age (OR: 1.027 (95% CI [1.010, 1.044]; p = 0.002)). There were no group differences in radiological findings, except that the neurological cohort showed significantly more age-adjusted brain volume loss (p = 0.045) than controls. The study's patient cohort was limited to patients infected with COVID-19 during the first wave of the pandemic, when hospitals were overburdened, vaccines were not yet available, and treatments were limited. Patient profiles might differ when interrogating subsequent waves.
CONCLUSIONS
Patients with COVID-19 with neurological manifestations had worse long-term outcomes compared to matched controls. These findings raise awareness and the need for closer monitoring and timely interventions for patients with COVID-19 with neurological manifestations, as their disease course involving initial neurological manifestations is associated with enhanced morbidity and mortality.
Topics: Humans; Female; COVID-19; SARS-CoV-2; Retrospective Studies; Follow-Up Studies; Aftercare; Patient Discharge; Seizures; Stroke
PubMed: 38573873
DOI: 10.1371/journal.pmed.1004263 -
European Review For Medical and... Mar 2024One of the major concerns of the post-COVID-19 era is elucidating and addressing the long-term complications of COVID-19.
OBJECTIVE
One of the major concerns of the post-COVID-19 era is elucidating and addressing the long-term complications of COVID-19.
SUBJECTS AND METHODS
A web-based questionnaire was distributed in Jordan to assess the prevalence and recovery from chemosensory dysfunction among COVID-19 long-haulers in Jordan.
RESULTS
A total of 611 respondents complained of chemosensory dysfunction (age range = 18-68 years), and the majority of the respondents were female (88.4%). Parosmia was the most prevalent olfactory dysfunction reported (n = 337, 33.3%), and parageusia was the most frequently reported gustatory dysfunction (n = 239, 36.4%). Medications were not reported to be associated with a better perception of smell or taste by nearly half of those who had been treated (n = 146, 46.1%). Among participants who had received olfactory rehabilitation/training (n = 215, 35.2%), 43.7% (n = 94) reported modest improvement, with the most frequently helpful scents being coffee (n = 80, 24.8%), aromatic oils (n = 74, 23%), and perfumes/colognes (n = 73, 22.7%). Age was found to have a significant negative correlation with complete recovery. In addition, age (p < .05), anosmia (p < .001), hyperosmia (p < .001), ageusia (p < .05), and duration of olfactory dysfunction (p < .001) were all independent predictors of complete recovery.
CONCLUSIONS
Chemosensory dysfunctions are largely subjective; therefore, more objective examinations are required to draw more definite conclusions.
Topics: Humans; Female; Male; Adolescent; Young Adult; Adult; Middle Aged; Aged; Prevalence; COVID-19; Jordan; Olfaction Disorders; Smell; Syndrome
PubMed: 38567618
DOI: 10.26355/eurrev_202403_35765